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C9orf72 is required for proper macrophage and microglial function in mice.

J G O'Rourke1, L Bogdanik2, A Yáñez1

  • 1Board of Governors Regenerative Medicine Institute, Cedars-Sinai Medical Center, 8700 Beverly Boulevard, Los Angeles, CA 90048, USA.

Science (New York, N.Y.)
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Summary

C9orf72 gene expansions cause ALS and FTD. Loss of C9orf72 function in mice led to immune cell issues and neuroinflammation, suggesting a role in these neurodegenerative diseases.

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Area of Science:

  • Neuroscience
  • Genetics
  • Immunology

Background:

  • Hexanucleotide repeat expansions in the C9orf72 gene are the leading genetic cause of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD).
  • Reduced C9orf72 expression in carriers suggests a loss-of-function mechanism contributes to disease pathogenesis.

Purpose of the Study:

  • To investigate the in vivo function of C9orf72 and its role in neurodegenerative diseases.
  • To determine if loss of C9orf72 function leads to motor neuron disease or other pathologies.

Main Methods:

  • Generation and analysis of two independent mouse lines lacking the C9orf72 ortholog (3110043O21Rik).
  • Assessment of normal development, aging, and disease phenotypes in C9orf72 null mice.
  • Analysis of C9orf72 expression patterns, particularly in myeloid cells.
  • Investigation of lysosomal function and immune responses in macrophages and microglia from C9orf72 null mice.
  • Comparison of neuroinflammation in C9orf72 null mice with human ALS patient tissues.

Main Results:

  • C9orf72 null mice developed normally and did not exhibit motor neuron disease.
  • Progressive splenomegaly and lymphadenopathy were observed, characterized by the accumulation of engorged macrophage-like cells.
  • C9orf72 expression was highest in myeloid cells.
  • Loss of C9orf72 resulted in lysosomal accumulation and altered immune responses in macrophages and microglia.
  • Age-related neuroinflammation was detected in C9orf72 null mice, resembling that seen in C9orf72-linked ALS but not sporadic ALS.

Conclusions:

  • C9orf72 is essential for the normal function of myeloid cells.
  • Altered microglial function due to C9orf72 deficiency may contribute to neurodegeneration in C9orf72 expansion carriers.
  • The study highlights a potential non-neuronal cell-autonomous role for C9orf72 in immune homeostasis relevant to ALS and FTD pathogenesis.